Hypotonia of the newborn or infant is defined as decreased resistance to passive movement and is a frequent diagnostic challenge in pediatric practice. The hypotonic syndrome is a working diagnosis and its etiology must be identified to determine associated morbidities, prognosis, and management. Rapid advances in bioinformatics and molecular genetic testing allow for early accurate diagnoses in the diagnostic process. Therefore, it is necessary to carry out an updated review on this topic. The objective of this non-systematic narrative review is to describe the diagnostic approach to hypotonic syndrome and its main etiologies. A review of the literature from PubMed and Scielo databases was carried out, including relevant articles in English and Spanish published in the last 15 years. We emphasize the value of the clinical examination and history in locating the cause of hypotonia (cen tral or peripheral) as the first step toward the etiological diagnosis. Systemic diseases such as sepsis, hypoxic-ischemic encephalopathy, heart failure, and metabolic and electrolyte abnormalities are still common causes of central hypotonia. Peripheral hypotonia involves disorders of the anterior horn of the spinal cord, peripheral nerve, neuromuscular junction and muscle, of inherited and acquired origin. The use of images of the central nervous system and muscle and genetic panels and exome, constitute the most recent contributions to the diagnosis of hypotonic syndrome. This article propo ses an initial approach based on the main clinical clues leading to a certain diagnosis. Its therapy is supportive, except for some conditions that require specific treatment.
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http://dx.doi.org/10.32641/andespediatr.v93i4.4050 | DOI Listing |
J Clin Med
December 2024
NYU Grossman Long Island School of Medicine, 101 Mineola Blvd., Mineola, NY 11501, USA.
A knowledge gap may exist when attempting to identify the pathogenetic mechanisms resulting in the syndrome of inappropriate antidiuretic hormone (SIADH) or hypotonic hyponatremia. Ectopic secretion of antidiuretic hormone [ADH] is the classic cause of SIADH. But another form of inappropriate secretion of ADH occurs when interleukin 6 is activated.
View Article and Find Full Text PDFBeijing Da Xue Xue Bao Yi Xue Ban
December 2024
Department of Rheumatology, Peking University Third Hospital, Beijing 100191, China.
We reported the diagnostic and therapeutic process of a young male patient with systemic lupus erythematosus (SLE) who presented with severe hyponatremia as the main manifestation upon admission, and analyzed and discussed the case. The patient was a 19-year-old young male with a subacute course of disease, fever ≥38.3 ℃ that could not be explained by other causes, acute and subacute cutaneous lupus erythematosus, oral ulcers, arthritis, leukopenia (< 4×10/L), low C3+low C4, and positive anti-double-stranded DNA (anti-dsDNA).
View Article and Find Full Text PDFUlus Travma Acil Cerrahi Derg
January 2024
Department of Urology, Burhan Nalbantoglu State Hospital, Lefkoşa-Cyprus.
Transient blindness is an extremely rare complication of transurethral resection (TUR) syndrome, which is a well-known complication recognized by urologists and anesthesiologists. TUR syndrome arises from the intravascular absorption of hypotonic fluids during the procedure. In this case report, an 80-year-old male patient experienced transient blindness after undergoing transurethral resection of the prostate.
View Article and Find Full Text PDFMol Syndromol
December 2024
Department of Pediatric Metabolism, Ankara University Faculty of Medicine, Ankara, Turkey.
EMBO J
January 2025
Division of Genetic Medicine, Lausanne University Hospital (CHUV), and University of Lausanne, 1011, Lausanne, Switzerland.
Volume-regulated anion channels (VRACs) are multimeric proteins composed of different paralogs of the LRRC8 family. They are activated in response to hypotonic swelling, but little is known about their specific functions. We studied two human individuals with the same congenital syndrome affecting blood vessels, brain, eyes, and bones.
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